Variant report

Variant	nsv512115
Chromosome Location	chr9:118108750-118110440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:118099941..118102566-chr9:118106314..118109013,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550764046	chr9:118108753-118108754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2418333	chr9:118108754-118108755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs75566053	chr9:118108763-118108764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182218128	chr9:118108765-118108766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565772588	chr9:118108807-118108808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2418334	chr9:118108818-118108819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186296311	chr9:118108840-118108841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578209152	chr9:118108893-118108894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114913409	chr9:118108912-118108913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2418335	chr9:118108952-118108953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs113627119	chr9:118108973-118108974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573775963	chr9:118108974-118108975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572434282	chr9:118108994-118108995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542784305	chr9:118109038-118109039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559374657	chr9:118109121-118109122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117886869	chr9:118109143-118109144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146475335	chr9:118109175-118109176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546030915	chr9:118109225-118109226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7467175	chr9:118109239-118109240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181673187	chr9:118109240-118109241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139916320	chr9:118109284-118109285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13286646	chr9:118109285-118109286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs112886937	chr9:118109359-118109360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10217677	chr9:118109363-118109364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10217678	chr9:118109428-118109429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs534665064	chr9:118109462-118109463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551762551	chr9:118109475-118109476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13287390	chr9:118109507-118109508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565422101	chr9:118109584-118109585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112825966	chr9:118109900-118109901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200652212	chr9:118109983-118109984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202065515	chr9:118109985-118109986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199792144	chr9:118109986-118109987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200577789	chr9:118109987-118109988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143430610	chr9:118110057-118110058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537794737	chr9:118110085-118110086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532794092	chr9:118110161-118110162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375895157	chr9:118110230-118110231	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557261850	chr9:118110239-118110240	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190681483	chr9:118110255-118110256	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536329950	chr9:118110271-118110272	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528270336	chr9:118110296-118110297	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183184904	chr9:118110302-118110303	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150935019	chr9:118110303-118110304	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544637348	chr9:118110337-118110338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185851283	chr9:118110356-118110357	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10982698	chr9:118110364-118110365	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs544531612	chr9:118110387-118110388	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375017539	chr9:118110407-118110408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	18940311	CNVD
Neuroticism	17667963	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Neurodevelopmental disorder	0	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118104400-118110400	Weak transcription	NHDF-Ad	bronchial
2	chr9:118106200-118110200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:118110200-118110800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
4	chr9:118110400-118110600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:118110400-118110800	ZNF genes & repeats	NHDF-Ad	bronchial

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